Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A3
Variant:p.L521fs
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SLC34A3

NM_001177316.2:p.L521fs

Associated Papers

Clinical and Functional Assessment of Digenicity in Renal Phosphate Wasting.

Petzold F et al.

Nutrients, 2023

37432176 (PubMed )
Supplement: nutrients-15-02081-s001.zip › nutrients-2345107-supplementary.pdf

Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.

Rush ET et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022

34633109 (PubMed )
Supplement: JBMR-37-202-s001.xlsx › Supplemental_Table_2

Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.

Gordon RJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."